Once and for all, can human genes be patented?

The long-debated question of whether a gene can be patented marked an important milestone on April 15th when the U.S. Supreme Court began hearing arguments in the Association for Molecular Pathology v. Myriad Genetics Inc., the case challenging patents on the human BRCA1 and BRCA2 genes. Mutations in these genes are linked to increased risk for breast and ovarian cancers. In 2010, the District Court of Southern New York invalidated seven patents related to the BRCA1 and BRCA2 genes (1), but this decision was reversed by the Federal Circuit Court of Appeals in July of 2012 (2). However, the court did rule that analyzing cancer risk, a separate Myriad patent, constituted abstract mental steps that cannot be patented.

The question at the heart of these cases is whether the BRCA1 and BRCA2 cDNA (DNA made from mRNA and therefore lacking introns) isolated for Myriad’s tests is different from DNA in the human body. Naturally occurring substances, such as DNA, are ineligible for patents. There are also farther reaching questions such as the effects of patents on research and patient care. One argument is that patents are needed to protect intellectual property; without them companies would be unwilling to invest in the development of new diagnostic tools. Conversely, patents can restrict access to data for biomedical research and limit innovation in the test itself. In 1996, when Myriad first received the patent, their tests detected point mutations in the BRCA genes. It was not until 2006 that they began testing for chromosomal rearrangements affecting these genes (3).

The early testimony before the Supreme Court relied on a variety of analogies to distinguish what is a natural gene (unpatenable) and what is an artificial or man-made gene (patenable) (4). At times, justices admitted to initial confusion over aspects of molecular biology and while all parties used analogies, Myriad attorney Gregory Castanias raised concerns over their limitations. Oral arguments before the Court continue with a final ruling expected in June.

Regardless of how the Supreme Court rules, Myriad owns the rights to a huge database of genetic mutations that correlate with a relative risk of cancer. Access to such a database is important for identifying rare variants and potential genetic modifiers; such data may hold the key to the significance of a patient’s mutations and could be critical information for their doctors. Until 2004, Myriad maintained a publically accessible database of the mutations. However, the company has since made the database private, citing concerns that it was being used for treatment decisions, not for research as intended (5). In theory, the report Myriad provides to individual doctors could, if compiled, recreate Myriad’s database. One group, led by Dr. Nussbaum at the University of California, San Francisco is trying to do exactly that, but it remains a huge task (6).

The existing single gene patent system is not compatible with whole genome sequencing which gives doctors all the genetic variants. However, doctors may lack the full information needed to interpret the significance of these mutations. Efforts like those of Dr. Nussbaum are one solution. In the coming weeks, the Supreme Court will rule on gene patents, but how to access information about sequence variations in those genes remains an open question.

2. Association for Molecular Pathology, et al., plaintiffs against United States Patent and Trademark Office, et al.,defendants. United States Court of Appeals for the Federal Circuit. 29 July 2012. http://www.aclu.org/files/assets/10-1406.pdf